{"id":"W2059892754","doi":"10.1016/j.clinbiochem.2011.10.019","title":"Spinal muscular atrophy: Clinical validation of a single-tube multiplex real time PCR assay for determination of SMN1 and SMN2 copy numbers","year":2011,"lang":"en","type":"article","venue":"Clinical Biochemistry","topic":"Neurogenetic and Muscular Disorders Research","field":"Medicine","cited_by":19,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of Manitoba; Centre Hospitalier Universitaire Sainte-Justine; Université de Sherbrooke","funders":"","keywords":"SMN1; Spinal muscular atrophy; Multiplex; Real-time polymerase chain reaction; Medicine; Biology; Molecular biology; Pathology; Genetics; Gene; Disease","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.002468737,0.001252268,0.0006950784,0.001492249,0.0006814386,0.0008724848,0.0007286206,0.001465563,0.00150288],"category_scores_gemma":[0.00583157,0.0005342069,0.0004161607,0.0004697026,0.001123078,0.0006447591,0.0004237902,0.0007149063,0.0009351902],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0006418038,"about_ca_system_score_gemma":0.0004304207,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0008840085,"about_ca_topic_score_gemma":0.001845858,"domain_scores_codex":[0.9972161,0.0005179177,0.0002191555,0.0009376553,0.0009897202,0.0001193324],"domain_scores_gemma":[0.9982261,0.0006894666,0.00022667,0.0001665997,0.000501151,0.0001900115],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.004754299,0.001106091,0.3865588,0.0004064688,0.0002747894,0.003461347,0.00226471,0.002125859,0.5134898,0.0007432915,0.002867674,0.08194679],"study_design_scores_gemma":[0.0005761193,0.007986692,0.5791368,0.000204692,0.000371599,0.03075253,0.0009248812,0.04126434,0.3277166,0.00145604,0.009474515,0.0001351881],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9762502,0.001584606,0.01586415,0.0005197505,0.0002128498,0.0003629915,0.001137294,0.0004173948,0.003650759],"genre_scores_gemma":[0.9828593,0.0002161996,0.01364219,0.0002565919,0.00005484984,0.0003707503,0.0007869879,0.00005634372,0.001756822],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002468737,"threshold_uncertainty_score":0.0130561,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.1079427999445201,"score_gpt":0.404521825488813,"score_spread":0.2965790255442929,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). Scores rank; they never assert a category."}}